Linked Data
ClinVar Variation Id:
199172
dbSNP Id:
rs794727979
gnomAD v2:
9-140652387-C-T
gnomAD v4:
9-137757935-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137757935C>T , CM000671.2:g.137757935C>T | GRCh38 |
| NC_000009.11:g.140652387C>T , CM000671.1:g.140652387C>T | GRCh37 |
| NC_000009.10:g.139772208C>T | NCBI36 |
| NG_011776.1:g.143944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1425C>T MANE Select | ENSP00000417980.1:p.Asp475= | |
| ENST00000629335.2:c.1425C>T | ENSP00000490056.1:p.Asp475= | |
| ENST00000636027.1:c.1311C>T | ENSP00000489961.1:p.Asp437= | |
| ENST00000637161.1:c.1332C>T | ENSP00000490328.1:p.Asp444= | |
| ENST00000637261.1:c.1465C>T | ENSP00000490815.1:n.1465C>T | |
| ENST00000637977.1:c.1370C>T | ||
| ENST00000638071.1:c.1052C>T | ||
| ENST00000640639.1:c.594C>T | ENSP00000491823.1:p.Asp198= | |
| ENST00000371394.6:c.*1160C>T | ENSP00000485945.1:n.*1160C>T | |
| ENST00000460843.5:c.1425C>T | ENSP00000417980.1:p.Asp475= | |
| ENST00000462484.5:c.1425C>T | ENSP00000417328.1:p.Asp475= | |
| ENST00000462942.3:c.282C>T | ENSP00000436107.1:p.Asp94= | |
| ENST00000465566.2:c.117C>T | ENSP00000486261.1:p.Asp39= | |
| ENST00000629808.2:c.518C>T | ||
| NM_001145527.1:c.1425C>T | NP_001138999.1:p.Asp475= | |
| NM_024757.4:c.1425C>T | NP_079033.4:p.Asp475= | |
| XM_005266105.3:c.1416C>T | XP_005266162.1:p.Asp472= | |
| XM_005266110.1:c.1332C>T | XP_005266167.1:p.Asp444= | |
| XM_006717288.2:c.1407C>T | XP_006717351.1:p.Asp469= | |
| XM_011519021.1:c.1434C>T | XP_011517323.1:p.Asp478= | |
| XM_011519022.1:c.1431C>T | XP_011517324.1:p.Asp477= | |
| XM_011519023.1:c.1413C>T | XP_011517325.1:p.Asp471= | |
| XM_011519024.1:c.1356C>T | XP_011517326.1:p.Asp452= | |
| XM_011519025.1:c.1332C>T | XP_011517327.1:p.Asp444= | |
| XM_011519026.1:c.1434C>T | XP_011517328.1:p.Asp478= | |
| XM_011519027.1:c.1434C>T | XP_011517329.1:p.Asp478= | |
| XM_011519028.1:c.1434C>T | XP_011517330.1:p.Asp478= | |
| XM_011519033.1:c.1413C>T | XP_011517335.1:p.Asp471= | |
| NM_001354259.1:c.1332C>T | NP_001341188.1:p.Asp444= | |
| NM_001354263.1:c.1404C>T | NP_001341192.1:p.Asp468= | |
| NM_001354611.1:c.1425C>T | NP_001341540.1:p.Asp475= | |
| NM_001354612.1:c.1332C>T | NP_001341541.1:p.Asp444= | |
| XM_005266105.5:c.1416C>T | XP_005266162.1:p.Asp472= | |
| XM_011519021.3:c.1434C>T | XP_011517323.1:p.Asp478= | |
| XM_011519022.3:c.1431C>T | XP_011517324.1:p.Asp477= | |
| XM_011519023.3:c.1413C>T | XP_011517325.1:p.Asp471= | |
| XM_017015134.1:c.1410C>T | XP_016870623.1:p.Asp470= | |
| XM_017015136.2:c.1326C>T | XP_016870625.1:p.Asp442= | |
| XM_017015137.1:c.1311C>T | XP_016870626.1:p.Asp437= | |
| XM_017015138.1:c.1311C>T | XP_016870627.1:p.Asp437= | |
| XM_024447674.1:c.1254C>T | XP_024303442.1:p.Asp418= | |
| XM_024447675.1:c.1332C>T | XP_024303443.1:p.Asp444= | |
| XM_024447676.1:c.549C>T | XP_024303444.1:p.Asp183= | |
| XM_024447677.1:c.549C>T | XP_024303445.1:p.Asp183= | |
| XM_024447678.1:c.1332C>T | XP_024303446.1:p.Asp444= | |
| XM_024447679.1:c.1332C>T | XP_024303447.1:p.Asp444= | |
| XM_024447680.1:c.1311C>T | XP_024303448.1:p.Asp437= | |
| NM_024757.5:c.1425C>T MANE Select | NP_079033.4:p.Asp475= | |
| NM_001145527.2:c.1425C>T | NP_001138999.1:p.Asp475= | |
| NM_001354259.2:c.1332C>T | NP_001341188.1:p.Asp444= | |
| NM_001354263.2:c.1404C>T | NP_001341192.1:p.Asp468= | |
| NM_001354611.2:c.1425C>T | NP_001341540.1:p.Asp475= | |
| NM_001354612.2:c.1332C>T | NP_001341541.1:p.Asp444= |